| Abstract: | A severe form of I-cell disease (mucolipidosis II) can present in the newborn period as
multiple fractures. The bone disease in these patients is believed to be due to
hyperparathyroidism. We report a case where bone disease was present at birth but the
parathyroid hormone levels were initially normal and did not increase until 37 d of age.
Supplemention with vitamin D was needed to normalize the parathyroid hormone levels
despite adequate intake of vitamin D, calcium and phosphorus. We suggest that in patients
with I-cell disease, continued evaluation for hyperparathyroidism may be necessary despite
initial normal parathyroid hormone levels. |
